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John W Hinkle, Nidhi Relhan, Harry W Flynn
Background: Lipemia retinalis is a rare but known complication of elevated serum triglycerides. This case describes the clinical course of a diabetic patient who presented with lipemia retinalis and macular edema, which responded to systemic and local treatments. Case Report: A 40-year-old female with a history of type II diabetes mellitus, hypertriglyceridemia, and pancreatitis presented with decreased vision in the left eye. She had peripapillary and macular edema, intraretinal hemorrhages, and prominent exudates in the setting of lipemia retinalis due to type IV hypertriglyceridemia...
September 2018: Case Reports in Ophthalmology
Engin Kose, Coskun Armagan, Pelin Teke Kısa, Huseyin Onay, Nur Arslan
Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene. Case presentation Case 1, a 46-day-old female, was admitted to our hospital for evaluation due to the lipemic appearance of the blood sample...
November 27, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Tomomi Minamoto, Joseph C Parambeth, Rosemary L Walzem, Harold R Payne, Jonathan A Lidbury, Jan S Suchodolski, Jörg M Steiner
Changes in proportions of lipoprotein classes have been described in disease states in humans. In veterinary medicine, hyperlipidemia can cause complications, such as cutaneous xanthomas, liver disease, cholelithiasis, pancreatitis, glomerular disease, lipemia retinalis, or peripheral neuropathy, but there are few reports regarding lipoproteins in diseased animals. For canine serum, we partially validated continuous lipoprotein density profiling (CLPDP), a novel density gradient ultracentrifugation technique...
September 3, 2018: Journal of Veterinary Diagnostic Investigation
Shreyans Jain, Alpesh Goyal, Vinod Kumar
No abstract text is available yet for this article.
August 25, 2018: Lancet
M H Shah, R Roshan, R Desai, S S Kadam
Lipoprotein lipase (LPL) deficiency is an autosomal recessive metabolic disorder with varying presentation in infancy and childhood, whereas clinical manifestations are rare in neonatal period. The estimated prevalence is one in a million births. A 23-day-old baby was admitted with complaints of fever, vomiting, and lethargy. Blood sample drawn appeared lipemic. Lipemia retinalis was noted on funduscopic examination. Biochemical analysis revealed abnormal lipid profile with severe hypertriglyceridemia (10,300 mg/dL) and elevated serum lipase level (517 IU/L) indicative of LPL deficiency with acute pancreatitis...
October 2018: Journal of Postgraduate Medicine
Matthew G J Trese, Jade M Price, Lisa Bohra
We describe the clinical course of an 11-year-old girl diagnosed with lipemia retinalis as the presenting sign of diabetes mellitus type 1 with severe secondary hypertriglyceridemia. By performing serial multimodal imaging studies, we provide a comprehensive description of the clinical manifestations associated with severe hypertriglyceridemia to promote recognition of this rare clinical diagnosis.
October 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Barbara Wetzel, Georgios Mylonas, Thomas Puntus, Franz Prager, Clemens Bernhart, Michael Amon
PURPOSE: The purpose of this report is to describe a case of lipemia retinalis due to decompensating hyperlipidemia that occurred during chemotherapy in a patient with metastatic colon carcinoma. METHODS: Retrospective case report. RESULTS: A 55-year-old non-insulin-dependent diabetic man with well-controlled hyperlipidemia presented himself with temporarily blurred vision in both eyes occurring during chemotherapy. He was found to have lipemia retinalis in his both eyes...
August 2, 2018: Retinal Cases & Brief Reports
María P Di Yorio, Daniela I Pérez Sirkin, José A Muñoz-Cueto, Tomás H Delgadin, Kazuyoshi Tsutsui, Gustavo M Somoza, Paula G Vissio
Reproduction is regulated by the hypothalamic-pituitary-gonadal axis. The first neuropeptide identified that regulates this function was the decapeptide gonadotropin-releasing hormone (GnRH). Nowadays, in gnatostomates, a number of GnRH variants have been identified and classified into three different types: GnRH1, GnRH2, and GnRH3. Almost 30 years later, a new peptide that inhibits gonadotropin synthesis and secretion was discovered and thus named as gonadotropin-inhibitory hormone (GnIH). In avians and mammals, the interaction and regulation between GnRH and GnIH neurons has been widely studied; however, in other vertebrate groups there is little information about the relationship between these neurons...
June 18, 2018: General and Comparative Endocrinology
María P Di Yorio, Julieta E Sallemi, Francisco J Toledo Solís, Daniela I Pérez Sirkin, Tomás H Delgadin, Kazuyoshi Tsutsui, Paula G Vissio
RFamide peptides are expressed in the early stages of development in most vertebrates. Gonadotropin-inhibitory hormone (GnIH) belongs to the RFamide family, and its role in reproduction has been widely studied in adult vertebrates, ranging from fish to mammals. As only three reports evaluated GnIH during development, the aim of this study was to characterise the ontogeny of GnIH in a fish model, Cichlasoma dimerus. We detected the presence of two GnIH-immunoreactive (GnIH-ir) cell clusters with spatial and temporal differences...
May 13, 2018: Journal of Neuroendocrinology
Maria Benson, Robert W Wong, Ryan C Young, James B Gibson, Yuxin Fan, Clio Armitage Harper
PURPOSE: The aim of this study was to describe dynamic color change in retinal vessels from white to coral pink due to externally applied ocular pressure in a 6-week-old infant with lipemia retinalis secondary to type 1b familial hyperlipoproteinemia. METHODS: Fundus images and fluorescein angiogram were taken with RetCam3 camera. Color photographs of pooled blood were taken during phlebotomy. RESULTS: Genetic analysis revealed a rare genetic mutation in the APOC2 gene, a lipoprotein lipase activator...
October 2018: Retinal Cases & Brief Reports
Samira Ghoor, Peter Berlyn, Naeem Brey
Severe hypertriglyceridemia is the third most common cause of acute pancreatitis and is strongly associated with an increased risk of cardiovascular disease. In infants, the most common cause of severe hypertriglyceridemia is lipoprotein lipase deficiency. We describe a 7-week-old infant with severe hypertriglyceridemia, who presented with frequent gastrointestinal bleeding, respiratory distress, a decreased level of consciousness and lipemia retinalis. Triglycerides were reduced from 734 to 2 mmol/L (64,956-177 mg/dL), by exchange transfusions...
January 2018: Journal of Clinical Lipidology
Paolo S Silva, Aditi Gupta, Radwan S Ajlan, Deborah K Schlossman, Ann M Tolson, Jerry D Cavallerano, Lloyd Paul Aiello
OBJECTIVE: To describe the characteristic retinal features of lipemia retinalis when using ultrawide field scanning laser ophthalmoscopy. MAIN POINTS: We report a case series of three subjects with ultrawide field retinal images showing cream discoloration of the fundus, light salmon-coloured posterior retinal vessels and greyish pink peripheral vasculature. On green-only imaging, many of the vessels appear light rather than typically dark. CONCLUSION: Lipemia retinalis is readily apparent on ultrawide field imaging and illustrates the alterations that systemic diseases may induce in the posterior and peripheral retinal vasculature...
August 2018: Acta Ophthalmologica
Dinesha Maduri Vidanapathirana, Thushara Rodrigo, Samantha Waidyanatha, Eresha Jasinge, Amanda J Hooper, John R Burnett
No abstract text is available yet for this article.
2017: Global Pediatric Health
Astha Jain, Thirumalesh B Mochi, Sherine D Braganza, Sumeet Agrawal, Bhujang K Shetty, Balachandran Pachiyappan
Lipemia retinalis is an unusual ocular finding associated with hypertriglyceridemia. We report the case of an infant treated for retinopathy of prematurity who later developed lipemia retinalis, with triglyceride levels of 4736 mg/dl. There was a paradoxical worsening of hypertriglyceridemia with the use of medium chain triglyceride supplement. On discontinuing the supplement, the triglycerides level drastically dropped, and retinal vasculature returned to a normal hue.
June 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
August 2017: Der Internist
Neha C Jain, Jyothi Vanteri, Parag K Shah, Venkatapathy Narendran
We present a rare case of lipemia retinalis secondary to familial lipase deficiency.
January 2017: Oman Journal of Ophthalmology
David Rivera-De La Parra, Liliana Perez-Peralta, Jim Toldi, Jason Levine, Michael Fikhman, Enrique O Graue-Hernandez
PURPOSE: To describe multicolor scanning laser imaging (MSLI) and conventional fundus photography findings in lipemia retinalis (LR). METHODS: We report two LR cases. The first case is a 47-year-old diabetic woman with LR secondary to familial hypertriglyceridemia examined with MSLI, conventional fundus photography, and optical coherence tomography (OCT). The second case is a 39-year-old diabetic man with hypertriglyceridemia and LR. He was followed over time with conventional fundus photography of his retina until metabolic control was achieved...
January 2017: Retinal Cases & Brief Reports
Han Y Yin, Roberto Warman, Edward H Suh, Anny Ms Cheng
PURPOSE: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG). DESIGN: Observational case report. OBSERVATIONS: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation...
2016: International Medical Case Reports Journal
K Gayathri, P K Ramalingam, Rpsp Santhakumar, B V Manjunath, N Karuppuswamy, B Vetriveran, S Selvamani, P Vishnuram, A Muruganathan, Kumar Natarajan
Lipemia retinalis is a rare and asymptomatic condition which occurs when high levels of triglycerides and chylomicrons are present in blood. We report a rare case of secondary hyperlipoproteinemia in a 27 year old type 1 diabetes patient who presented with diabetic ketoacidosis and this peculiar ocular manifestation. The fundoscopic abnormality and creamy white serum cleared as the level of chylomicrons in the plasma dropped with intensive insulin therapy.
April 2016: Journal of the Association of Physicians of India
Nivedita Patni, Julie Brothers, Chao Xing, Abhimanyu Garg
Type I hyperlipoproteinemia (T1HLP) usually presents with extreme hypertriglyceridemia, recurrent episodes of acute pancreatitis, lipemia retinalis, and cutaneous eruptive xanthomas. We report a unique 10-year-old male of Indian origin who presented in neonatal period with transient obstructive jaundice and xanthomas in the pancreas and kidneys. Serum triglycerides stabilized with extremely low-fat diet although he subsequently developed pancreatic atrophy. Extreme hypertriglyceridemia failed to respond to treatment with fenofibrate, fish oil, and orlistat...
July 2016: Journal of Clinical Lipidology
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